The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka.

AIMS: This study was designed to determine the prevalence of azoospermia factor (AZF) microdeletions on the Y chromosome in Sri Lankan Sinhalese infertile men with azoospermia and severe oligozoospermia. SETTINGS AND DESIGN: The patient group was 207 karyotypically normal infertile Sinhalese males. MATERIALS AND METHODS: The presence of 13 sequence-tagged site (STS) markers in the AZF region was tested using multiplex polymerase chain reaction (M-PCR). One hundred and twenty unselected men were also studied as a control group. RESULTS: Three (1.5%) had classic Y chromosome microdeletions in the AZFc sub-region. CONCLUSIONS: These results suggest a much lower Y chromosome microdeletion frequency than previously thought, even among a strictly selected group of sub-fertile males in Sri Lanka.

Y chromosome microdeletions are not associated with spontaneous recurrent pregnancy loss in a Sinhalese population in Sri Lanka.

BACKGROUND: Many advances have been made in reproductive medicine, yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in ∼7% of men with low sperm counts and, compared with the general population, a higher frequency of spontaneous pregnancy loss occurs in infertile couples. The current study was designed to examine whether Y chromosome microdeletions were associated with RPL in a Sinhalese population in Sri Lanka. METHODS: The subjects were 76 male partners of couples where the female partner had experienced three or more RPLs. One hundred and twenty random males from the general population were also analysed as a control group. DNA extracted from peripheral blood was tested for Y chromosome microdeletions in the azoospermic factor (AZF), AZFa, AZFb, AZFc regions using a multiplex PCR amplification system. Partial deletions within the AZFc region were also tested. RESULTS: None of the men (76 with RPL, and the 120 controls) had any microdeletions in the AZFa, AZFb, AZFc regions or partial deletions in the AZFc region. CONCLUSIONS: Y chromosome microdeletions do not appear to be important in the aetiology of RPL in this population in Sri Lanka.